ClinVar Miner

List of variants in gene GIPC3 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg) rs946085339
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) rs387907002
NM_133261.3(GIPC3):c.685dup (p.Ala229fs) rs748150647
NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter) rs1568278651
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp) rs387907001
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg) rs387906999
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter) rs387907000

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